"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "FANCI"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417426	NC_000015.10:g.(?_89247629)_(89317131_?)del	POLG, FANCI	Deletion	Fanconi anemia	GPathogenic
Select item 1022962	NM_001113378.2(FANCI):c.1A>G (p.Met1Val)	FANCI (M1V)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1998470	NM_001113378.2(FANCI):c.2T>G (p.Met1Arg)	FANCI (M1R)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia	GUncertain significance
Select item 1404691	NM_001113378.2(FANCI):c.4G>T (p.Asp2Tyr)	FANCI (D2Y)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1969461	NM_001113378.2(FANCI):c.8A>G (p.Gln3Arg)	FANCI (Q3R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2917627	NM_001113378.2(FANCI):c.9G>C (p.Gln3His)	FANCI (Q3H)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1506003	NM_001113378.2(FANCI):c.12G>C (p.Lys4Asn)	FANCI (K4N)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 841021	NM_001113378.2(FANCI):c.13A>G (p.Ile5Val)	FANCI (I5V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1465747	NM_001113378.2(FANCI):c.16T>G (p.Leu6Val)	FANCI (L6V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 317257	NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser)	FANCI (L6S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1126102	NM_001113378.2(FANCI):c.18A>G (p.Leu6=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 954548	NM_001113378.2(FANCI):c.22C>G (p.Leu8Val)	FANCI (L8V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2722679	NM_001113378.2(FANCI):c.24A>G (p.Leu8=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1944196	NM_001113378.2(FANCI):c.32A>G (p.Glu11Gly)	FANCI (E11G)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 238325	NM_001113378.2(FANCI):c.33A>G (p.Glu11=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1638226	NM_001113378.2(FANCI):c.39A>T (p.Thr13=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1040173	NM_001113378.2(FANCI):c.40G>A (p.Ala14Thr)	FANCI (A14T)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1415533	NM_001113378.2(FANCI):c.45C>G (p.Asp15Glu)	FANCI (D15E)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1420910	NM_001113378.2(FANCI):c.50T>G (p.Leu17Arg)	FANCI (L17R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2878476	NM_001113378.2(FANCI):c.51G>T (p.Leu17=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1984361	NM_001113378.2(FANCI):c.53A>G (p.Gln18Arg)	FANCI (Q18R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2160216	NM_001113378.2(FANCI):c.68C>G (p.Thr23Ser)	FANCI (T23S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 3020216	NM_001113378.2(FANCI):c.69C>T (p.Thr23=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2016354	NM_001113378.2(FANCI):c.70C>T (p.Leu24=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 408257	NM_001113378.2(FANCI):c.83A>G (p.Asp28Gly)	FANCI (D28G)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2982327	NM_001113378.2(FANCI):c.84+2_84+3del	FANCI	Microsatellite (splice donor variant +1 more)	Fanconi anemia	GLikely pathogenic
Select item 1579588	NM_001113378.2(FANCI):c.84+6dup	FANCI	Duplication (intron variant)	Fanconi anemia	GLikely benign
Select item 1537998	NM_001113378.2(FANCI):c.84+7A>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2085011	NM_001113378.2(FANCI):c.84+13A>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1346905	NM_001113378.2(FANCI):c.84+16C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2863989	NM_001113378.2(FANCI):c.84+17A>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1659133	NM_001113378.2(FANCI):c.84+19G>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2843327	NM_001113378.2(FANCI):c.85-22_85-15del	FANCI	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 3014745	NM_001113378.2(FANCI):c.85-19C>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2071710	NM_001113378.2(FANCI):c.85-19C>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2731065	NM_001113378.2(FANCI):c.85-8_85-5del	FANCI	Microsatellite (intron variant)	Fanconi anemia	GLikely benign
Select item 2709102	NM_001113378.2(FANCI):c.85-13T>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2737437	NM_001113378.2(FANCI):c.85-10T>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2836643	NM_001113378.2(FANCI):c.85-8_85-7del	FANCI	Deletion (intron variant)	Fanconi anemia	GLikely benign
Select item 2723408	NM_001113378.2(FANCI):c.85-8C>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2026652	NM_001113378.2(FANCI):c.85-2A>G	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia	GLikely pathogenic
Select item 2997488	NM_001113378.2(FANCI):c.85-1G>T	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group I +1 more	GLikely pathogenic
Select item 2725983	NM_001113378.2(FANCI):c.85-1G>A	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia	GLikely pathogenic
Select item 1001966	NM_001113378.2(FANCI):c.89C>T (p.Thr30Ile)	FANCI (T30I)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2176175	NM_001113378.2(FANCI):c.92A>T (p.Asn31Ile)	FANCI (N31I)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 570032	NM_001113378.2(FANCI):c.92A>G (p.Asn31Ser)	FANCI (N31S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2792401	NM_001113378.2(FANCI):c.93T>G (p.Asn31Lys)	FANCI (N31K)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2114556	NM_001113378.2(FANCI):c.93T>C (p.Asn31=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 435165	NM_001113378.2(FANCI):c.96_98del (p.Leu33del)	FANCI (L33del)	Deletion (inframe_deletion +1 more)	not specified +2 more	GUncertain significance
Select item 1353106	NM_001113378.2(FANCI):c.100C>G (p.Gln34Glu)	FANCI (Q34E)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2747833	NM_001113378.2(FANCI):c.103A>G (p.Asn35Asp)	FANCI (N35D)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2163334	NM_001113378.2(FANCI):c.106C>A (p.Gln36Lys)	FANCI (Q36K)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2098767	NM_001113378.2(FANCI):c.106C>G (p.Gln36Glu)	FANCI (Q36E)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1622163	NM_001113378.2(FANCI):c.114G>A (p.Val38=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2890688	NM_001113378.2(FANCI):c.123A>G (p.Lys41=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 2886661	NM_001113378.2(FANCI):c.126T>C (p.Val42=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 755573	NM_001113378.2(FANCI):c.150C>T (p.Ile50=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2202193	NM_001113378.2(FANCI):c.153C>G (p.Phe51Leu)	FANCI (F51L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2754005	NM_001113378.2(FANCI):c.157+1G>A	FANCI	Single nucleotide variant (splice donor variant)	Fanconi anemia	GLikely pathogenic
Select item 3018481	NM_001113378.2(FANCI):c.157+2TAA[2]	FANCI	Microsatellite (splice donor variant)	Fanconi anemia	GLikely benign
Select item 526410	NM_001113378.2(FANCI):c.157+7A>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +1 more	GConflicting classifications of pathogenicity
Select item 2903074	NM_001113378.2(FANCI):c.157+14A>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3003115	NM_001113378.2(FANCI):c.157+16G>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2994902	NM_001113378.2(FANCI):c.157+19A>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2153094	NM_001113378.2(FANCI):c.158-20C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2990207	NM_001113378.2(FANCI):c.158-19C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1559833	NM_001113378.2(FANCI):c.158-19C>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2731304	NM_001113378.2(FANCI):c.158-18C>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2713794	NM_001113378.2(FANCI):c.158-18C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 1670645	NM_001113378.2(FANCI):c.158-16T>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2171903	NM_001113378.2(FANCI):c.158-15G>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2713793	NM_001113378.2(FANCI):c.158-9A>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2148528	NM_001113378.2(FANCI):c.158-5A>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 225355	NM_001113378.2(FANCI):c.158-2A>G	FANCI	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 408254	NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala)	FANCI (G53A)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 2182657	NM_001113378.2(FANCI):c.163C>T (p.Pro55Ser)	FANCI (P55S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 257480	NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu)	FANCI (P55L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1616817	NM_001113378.2(FANCI):c.165C>T (p.Pro55=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia +1 more	GLikely benign
Select item 3008627	NM_001113378.2(FANCI):c.176A>T (p.Glu59Val)	FANCI (E59V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 456196	NM_001113378.2(FANCI):c.179C>G (p.Ala60Gly)	FANCI (A60G)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1558823	NM_001113378.2(FANCI):c.180T>C (p.Ala60=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1382680	NM_001113378.2(FANCI):c.182G>A (p.Gly61Glu)	FANCI (G61E)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2742118	NM_001113378.2(FANCI):c.183A>G (p.Gly61=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1473538	NM_001113378.2(FANCI):c.191_199del (p.Arg64_Arg66del)	FANCI	Deletion (inframe_deletion +1 more)	Fanconi anemia	GUncertain significance
Select item 317258	NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys)	FANCI (R66C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1025490	NM_001113378.2(FANCI):c.197G>A (p.Arg66His)	FANCI (R66H)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 3018289	NM_001113378.2(FANCI):c.198T>C (p.Arg66=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1495537	NM_001113378.2(FANCI):c.199A>G (p.Lys67Glu)	FANCI (K67E)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 1998759	NM_001113378.2(FANCI):c.202A>G (p.Ile68Val)	FANCI (I68V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2160880	NM_001113378.2(FANCI):c.205T>C (p.Tyr69His)	FANCI (Y69H)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +2 more	GUncertain significance
Select item 1020172	NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys)	FANCI (Y69C)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 2154292	NM_001113378.2(FANCI):c.207C>T (p.Tyr69=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1897471	NM_001113378.2(FANCI):c.208A>G (p.Thr70Ala)	FANCI (T70A)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2859092	NM_001113378.2(FANCI):c.211TGT[1] (p.Cys72del)	FANCI (C72del)	Microsatellite (inframe_deletion +1 more)	Fanconi anemia	GUncertain significance
Select item 583183	NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe)	FANCI (I73F)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1632982	NM_001113378.2(FANCI):c.219C>T (p.Ile73=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1001292	NM_001113378.2(FANCI):c.221A>T (p.Gln74Leu)	FANCI (Q74L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 2737622	NM_001113378.2(FANCI):c.222G>A (p.Gln74=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign
Select item 1469687	NM_001113378.2(FANCI):c.226G>A (p.Val76Met)	FANCI (V76M)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia	GUncertain significance
Select item 782309	NM_001113378.2(FANCI):c.228G>A (p.Val76=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia	GLikely benign

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